Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C et al.
European Journal of Human Genetics : Ejhg, 2023
Cyclic seizures in Lethal Neonatal Rigidity and Multifocal Seizure Syndrome: expanding the phenotype of a rare entity.
Gorito V et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E et al.
Neurology, 2023
BRAT1 Mutation Retrospective Diagnosis: A Case Report.
Vercellino F et al.
Cureus, 2023
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S et al.
Molecular Genetics & Genomic Medicine, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W et al.
Pediatric Research, 2022
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S et al.
Human Mutation, 2022
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Qi Y et al.
Frontiers in Genetics, 2022
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Fowkes R et al.
Epilepsy & Behavior Reports, 2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity.
Gorito V et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Pourahmadiyan A et al.
The International Journal of Neuroscience, 2021
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
Cornet MC et al.
Epilepsia, 2021
An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Colak FK et al.
Acta Neurologica Belgica, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Van Ommeren RH et al.
Journal of Neuropathology and Experimental Neurology, 2018
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants.
Srivastava S et al.
Pediatric Neurology Briefs, 2016
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Smith NJ et al.
American Journal of Medical Genetics. Part A, 2016
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2016
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Horn D et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
Fernández-Jaén A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
BRAT1-related disease--identification of a patient without early lethality.
Mundy SA et al.
American Journal of Medical Genetics. Part A, 2016
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
van de Pol LA et al.
Neuropediatrics, 2015
Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response.
Low LH et al.
The Journal of Biological Chemistry, 2015
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
Straussberg R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu H et al.
Journal of Human Genetics, 2014
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012